Anencephaly: Causes, Signs, Prevention & Prognosis!

Anencephaly represents the consequence of the fact that the neural tube does not close in the cranial part. Nerve cells degenerate and bone formation isn`t possible anymore.


This congenital abnormality incompatible with life is characterized by the absence of the cerebellum and encephalus, associated with the absence of the skull`s flat bones. The skull is missing and the cerebral hemispheres are replaced by reddish connective tissue. Ancephalic patients live for several weeks at maximum.

Table of Contents

Causes & Symptoms

If the neural tube doesn`t close properly, the development of the spinal cord and brain are exposed to the amniotic fluid that surrounds the fetus. This exposure causes the nervous system tissues to break  down (degenerate). As a result, patients with anencephaly lack of large parts of the brain known as cerebral and cerebellar. These brain areas are necessary for thinking, hearing, vision, emotion, and coordination of the movement. The skull`s bones have incomplete formats or are missing as well.

Almost all children with this birth defect die before birth or a few hours or days after birth.

Anencephaly is among the most frequent types of neural tube defects, affecting around 1 in 1.000 pregnancies. However, most of these, the prevalence of this medical condition in newborns is much lower. It`s estimated that 1 out of 10.000 infants is born with anencephaly in the U.S.

Most children with birth defects have parents without health issues. Statistically speaking, 60% of children born with congenital abnormalities have a source of these malformations that isn`t identified.

The most often mentioned causes include:

  • Stress.
  • Lifestyle.
  • Exposure to toxic substances in a repeated manner.
  • Deficient diet.

Still, there are lots of questions related to the identification of the causes of birth defects in children that remain unanswered.

What Genes Are Related to Anencephaly?

This is a complex medical condition, which is probably caused by the interaction of several genetic and environmental factors. Some of these specific factors have been found, but a lot of them still remain unknown.

Changes in genes might affect the risk of anencephaly. The best study that involves these genes is MTHFR, which offer instructions to make a protein that`s involved in folic acid processing of vitamin B- (folic acid also known as vitamin 9). Changes in other folic acid related processing genes and genes that are involved in the development of the neural tube have been studied as possible risk factors for this birth defect. Still, none of these genes seem to have an important role in causing this congenital abnormality.

Researchers have examined, also, environmental factors that would be involved in the risk of this abnormality. A folic acid deficiency may seem to play an important role. Studies have shown who take supplements that contain this vitamin before conceiving and very early in pregnancy are significantly less susceptible in having a child with this congenital malformation. – Learn more!

Others factors of risk for diabetes include anencephaly, obesity, exposure to high temperature in early pregnancy (fever, sauna, hydro massage), and the use of particular anti-seizure drugs while pregnant. Still, it`s rather unclear how these particular factors may influence the risk of this malformation.


This birth defect can frequently be diagnosed during pregnancy through an ultrasound investigation. The alpha-fetoprotein maternal serum and detailed fetal ultrasound may be rather useful for screening various congenital abnormalities like anencephaly or spina bifida.


This represents a rare type of anenchephaly that is characterized by a cranial protrusion (area cerebrovasculosa), malformed cranial bones, and a median cranial defect. Area cerebrovasculosa is an area of abnormal vascular tissue mixed with glial tissue that range from just a membrane to glial nodules, disorganized choroid plexuses, hemorrhagic vascular channels and a large mass of connective tissue.


The most frequent form of anencephaly, where the brain has totally failed to form, exception making the brain stem. Infants survive very rarely more than 24 hours after they are born with holoanencephaly.


The most serious form of anencephaly where area medullovasculosa and area cerebrovasculosa fill the spinal column and both cranial defects. Craniorachischisis is practically anencephaly accompanied by bony defects in the exposure of neural tissue and the spine as the skull`s vault fails to form. Craniorachischisis appears in around 1 out of 1.000 births, however, various tests can detect tube closure during pregnancy. – Click here!


Before Pregnancy

Women who intend to have a baby need to be vaccinated with an analysis of STDs.

Also, expecting mothers need to take the recommended dose of prenatal vitamins or folic acid, even before pregnancy.

During Pregnancy

A healthy life along with a well balanced diet can protect both the mother and baby.

  • Avoid smoking (passive smoking is included).
  • Avoid beverages that include alcohol.
  • Take sports at least 30 minutes every day (including walks).
  • Rest and keep in mind how important is to sleep.


There`s no treatment for this birth defect and the prognosis is death. Most fetuses that experiences this abnormality don`t even survive birth, accounting for a bit over 50% of non-aborted cases. Newborns that aren`t stillborn will generally die within several hours or days after birth.

There are 4 recorded cases of children with this congenital malformation who survive for longer periods of time. In almost all situations, these infants aren`t aggressively resuscitated because there`s no chance whatsoever of the newborn`s ever achieving a conscious existence.

Image courtesy of babyherald.com

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